CUBN (cubilin)

2017-01-01  

Identity

HGNC
CUBN
LOCATION
10p13
LOCUSID
8029
ALIAS
IFCR,IGS,IGS1,MGA1,gp280
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8029
MIM: 602997
HGNC: 2548
Ensembl: ENSG00000107611

Variants:

dbSNP: 8029
ClinVar: 8029
TCGA: ENSG00000107611
COSMIC: CUBN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107611ENST00000377833O60494
ENSG00000107611ENST00000433666H7C480

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective AMN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359462
Defective CUBN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359463
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223
Vitamin D (calciferol) metabolismREACTOMER-HSA-196791
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380088182024Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.0
384884352024Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.0
380088182024Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.0
384884352024Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.0
361122102023Clinical and genetic characterization of children with cubilin variants.1
369260362023Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans.1
375946712023Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?0
361122102023Clinical and genetic characterization of children with cubilin variants.1
369260362023Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans.1
375946712023Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?0
346101282022Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.5
349799892022CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.8
353376342022Cubilin, the intrinsic factor-vitamin B12 receptor.1
362667252022Novel pathogenic variants in CUBN uncouple proteinuria from renal function.4
346101282022Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.5

Citation

Dessen P

CUBN (cubilin)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56699/css/cancer-prone-explorer/case-report-explorer/